NM_198576.4(AGRN):c.4352C>T (p.Pro1451Leu) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Aug 1, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000533961.22

Allele description

NM_198576.4(AGRN):c.4352C>T (p.Pro1451Leu)

Gene:

AGRN:agrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.33

Genomic location:

Preferred name:

NM_198576.4(AGRN):c.4352C>T (p.Pro1451Leu)

HGVS:

NC_000001.11:g.1049289C>T
NG_016346.1:g.34167C>T
NM_001305275.2:c.4352C>T
NM_001364727.2:c.4037C>T
NM_198576.4:c.4352C>TMANE SELECT
NP_001292204.1:p.Pro1451Leu
NP_001351656.1:p.Pro1346Leu
NP_940978.2:p.Pro1451Leu
LRG_198t1:c.4352C>T
LRG_198:g.34167C>T
NC_000001.10:g.984669C>T
NM_198576.2:c.4352C>T
NM_198576.3:c.4352C>T

Protein change:

P1346L

Links:

dbSNP: rs144620006

NCBI 1000 Genomes Browser:

rs144620006

Molecular consequence:

NM_001305275.2:c.4352C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001364727.2:c.4037C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198576.4:c.4352C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000728476	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Sep 18, 2021)	germline	clinical testing	Citation Link,
SCV001142975	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Mar 19, 2019)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 19631309, 26467025
SCV002062375	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Aug 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000728476

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Sep 18, 2021)

germline

clinical testing

Citation Link,

SCV001142975

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Mar 19, 2019)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV002062375

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Aug 1, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	8	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.

Huzé C, Bauché S, Richard P, Chevessier F, Goillot E, Gaudon K, Ben Ammar A, Chaboud A, Grosjean I, Lecuyer HA, Bernard V, Rouche A, Alexandri N, Kuntzer T, Fardeau M, Fournier E, Brancaccio A, Rüegg MA, Koenig J, Eymard B, Schaeffer L, Hantaï D.

Am J Hum Genet. 2009 Aug;85(2):155-67. doi: 10.1016/j.ajhg.2009.06.015. Epub 2009 Jul 23. Erratum in: Am J Hum Genet. 2009 Oct;85(4):536.

PubMed [citation]

PMID:: 19631309
PMCID:: PMC2725239

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From GeneDx, SCV000728476.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is associated with the following publications: (PMID: 19631309)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Athena Diagnostics, SCV001142975.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV002062375.14

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	8	not provided	not provided	clinical testing	not provided

Description

AGRN: BS2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		8	not provided	not provided	not provided

Last Updated: May 7, 2024

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